Irish team in 'butterfly skin' breakthrough

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Irish researchers have made a breakthrough in gene therapy, which could improve the lives of those affected by the skin disease, epidermolysis bullosa (EB).

EB is an extremely painful genetic condition that causes the layers of the skin and internal body linings to blister and wound at the slightest touch. It is often referred to as the ‘butterfly skin' disease and affects around 300 people in Ireland.

Those with severe forms of the disease have to be carefully bandaged every second day and this can take several hours.

The condition is caused by a fault in the gene that makes a vital protein responsible for anchoring the layers of skin together.

Researchers at University College Dublin (UCD) have produced a gel-like treatment that contains a working gene. They hope that when this gel is applied, it will form functioning skin and significantly improve wound healing.

The gel works by inserting a functioning gene into the skin's cells. So far, it has been theoretically proven to work with one strand of EB, so the researchers are now carrying out more studies to see if it will work on patient skin and on other forms of the disease.

According to the researchers, one of the best things about this potential treatment is that it does not involve painful skin grafting procedures.

The research into this new gene therapy has been carried out over the last nine years by Prof Wenxin Wang, between the National University of Ireland, Galway (NUIG) and UCD. It has been part-funded by the EB charity Debra Ireland via public donations.

According to the charity's head of research, Dr Sinead Hickey, this new gene therapy could have a major impact on the lives of those affected.

"If this treatment is successful, people living with EB will be able to apply a gel to their skin and it will improve wound healing and the forming of functioning skin. This is not a cure, but this gel could make skin stronger and could improve life expectancy as a result.

"It may also prevent wounds in the first place. If there are no wounds then patients will suffer fewer infections, feel less pain, less itch and develop less skin cancer," she explained.

She noted that while a pharmaceutical company has now taken over the development of this gel, it would not have come about without the generous donations made by the public, which funded the first three years of research.

News of the gene therapy was highlighted as part of National EB Awareness Week, which runs from October 22-28. Debra Ireland is calling on members of the public to get involved by raising awareness about the condition and raising vital funds for ongoing research.

Dr Hickey emphasised that there are research projects similar to Prof Wang's out there waiting to be funded, ‘which could bring us a step closer to a cure'.

"This is very exciting time for people involved in EB research. We depend totally on public funding, and we are now at a stage where every euro can make a vital difference to the future lives of people living with the condition.

"Quite simply, EB is still classed as an incurable disease, and through public support, we are funding gene therapy research in the hope of a breakthrough in either pain and skin management, or in battling the root cause itself," she noted.

She insisted that if charities like Debra Ireland do not invest in early stage research, ‘we are never going to find the EB champion who can change the lives of this and future generations'.

"The answer lies in supporting technology that works on genes and changing DNA, and researchers such as Prof Wang and his team have shown us that the answer is there if we keep supporting EB researchers in their work.

"Anything that is curable nowadays went through this process. Survival rates that we take for granted, such as those in the area of cystic fibrosis and some cancers, were unheard of 30 years ago," Dr Hickey added.

During National EB Awareness Week, members of the public are being asked to help by picking up a Debra Ireland Butterfly tattoo at any Applegreen service station and texting the word BUTTERFLY to 50300 to make a €4 donation.